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Molecular Cloning and Characterization of Decay-Accelerating Factor Deficiency in Cromer Blood Group Inab Phenotype
| Content Provider | Scilit |
|---|---|
| Author | Wang, Li Uchikawa, Makoto Tsuneyama, Hatsue Tokunaga, Katsushi Tadokoro, Kenji Juji, Takeo |
| Copyright Year | 1998 |
| Description | An additional decay-accelerating factor (DAF) mutation, designated as Inab phenotype in the Cromer blood group system, was recently identified in a 28-year-old Japanese woman (H.A.). The red blood cells of H.A., like those of other Inab phenotype individuals, were negative for Cromer system antigens, Cra, Tca, Dra, UMC, and IFC. The deficiency of DAF on the red blood cells of H.A. has been shown by immunoblotting with a murine monoclonal antibody to DAF. Molecular analysis has shown that H.A. is homozygous for a single nucleotide substitution, C1579→A, at the position 24 bp upstream of the 3′-end of exon 2 of the DAF gene. This substitution causes the activation of a novel cryptic splice site and results in the production of mRNA with a 26 bp deletion. The deletion introduces a reading frame shift and creates a stop codon immediately downstream of the deletion. Translation of mRNA would be terminated at the first amino acid residue of the second short consensus repeat (SCR2) domain (exon 3) of DAF. The functional domains of DAF's complement regulatory activity and the carboxy-terminal signal domains for glycosylphosphatidylinositol (GPI) anchoring are predicted to be lacking in H.A. Thus, there would be no DAF present on the cell surface. |
| Related Links | https://ashpublications.org/blood/article-pdf/91/2/680/239364/680.pdf |
| Ending Page | 684 |
| Page Count | 5 |
| Starting Page | 680 |
| DOI | 10.1182/blood.v91.2.680.680_680_684 |
| Journal | Blood |
| Issue Number | 2 |
| Volume Number | 91 |
| Language | English |
| Publisher | American Society of Hematology |
| Publisher Date | 1998-01-15 |
| Access Restriction | Open |
| Subject Keyword | Endocrinology and Metabolism Antibody Substitution Antigens Immunoblotting Terminal Deletion Daf Accelerating Inab Journal: Blood (Vol- 58, Issue- 2) |
| Content Type | Text |
| Resource Type | Article |
